ELAC2

Protein identityUniProt · HPA

UniProt accession

Q9BQ52

Gene

ELAC2

Ensembl

ENSG00000006744

Chromosome

17

Canonical length

826 aa

Protein class

Disease related genes, Enzymes, Human disease related genes, Plasma proteins, Potential drug targets, Predicted intracellular proteins

Subcellular location

Nucleoplasm

Quaternary structure

Homodimer

OverviewNCBI Gene

The protein encoded by this gene has a C-terminal domain with tRNA 3′ processing endoribonuclease activity, which catalyzes the removal of the 3' trailer from precursor tRNAs. The protein also interacts with activated Smad family member 2 (Smad2) and its nuclear partner forkhead box H1 (also known as FAST-1), and reduced expression can suppress transforming growth factor-beta induced growth arrest. Mutations in this gene result in an increased risk of prostate cancer. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]

Canonical amino-acid sequenceUniProt

826 residues, UniProt reviewed canonical sequence.

>Q9BQ52|ELAC2
     1  MWALCSLLRS AAGRTMSQGR TISQAPARRE RPRKDPLRHL RTREKRGPSG CSGGPNTVYL
    61  QVVAAGSRDS GAALYVFSEF NRYLFNCGEG VQRLMQEHKL KVARLDNIFL TRMHWSNVGG
   121  LSGMILTLKE TGLPKCVLSG PPQLEKYLEA IKIFSGPLKG IELAVRPHSA PEYEDETMTV
   181  YQIPIHSEQR RGKHQPWQSP ERPLSRLSPE RSSDSESNEN EPHLPHGVSQ RRGVRDSSLV
   241  VAFICKLHLK RGNFLVLKAK EMGLPVGTAA IAPIIAAVKD GKSITHEGRE ILAEELCTPP
   301  DPGAAFVVVE CPDESFIQPI CENATFQRYQ GKADAPVALV VHMAPASVLV DSRYQQWMER
   361  FGPDTQHLVL NENCASVHNL RSHKIQTQLN LIHPDIFPLL TSFRCKKEGP TLSVPMVQGE
   421  CLLKYQLRPR REWQRDAIIT CNPEEFIVEA LQLPNFQQSV QEYRRSAQDG PAPAEKRSQY
   481  PEIIFLGTGS AIPMKIRNVS ATLVNISPDT SLLLDCGEGT FGQLCRHYGD QVDRVLGTLA
   541  AVFVSHLHAD HHTGLPSILL QRERALASLG KPLHPLLVVA PNQLKAWLQQ YHNQCQEVLH
   601  HISMIPAKCL QEGAEISSPA VERLISSLLR TCDLEEFQTC LVRHCKHAFG CALVHTSGWK
   661  VVYSGDTMPC EALVRMGKDA TLLIHEATLE DGLEEEAVEK THSTTSQAIS VGMRMNAEFI
   721  MLNHFSQRYA KVPLFSPNFS EKVGVAFDHM KVCFGDFPTM PKLIPPLKAL FAGDIEEMEE
   781  RREKRELRQV RAALLSRELA GGLEDGEPQQ KRAHTEEPQA KKVRAQ

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against ELAC2 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.29

Highest tissue expression

56 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about ELAC2.

Disease | AllUniProt

Conditions ELAC2 is implicated in, by any mechanism.

• Prostate cancer, hereditary, 2 (HPC2) MIM:614731
• Combined oxidative phosphorylation deficiency 17 (COXPD17) MIM:615440

Disease | GeneticClinVar

82 pathogenic / likely-pathogenic of 1,270 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Combined oxidative phosphorylation defect type 17
• Prostate cancer, hereditary, 2
• Inborn genetic diseases
• Ovarian cancer
• Prostate cancer, hereditary, 2, susceptibility to

Disease | ImmuneIEDB

Conditions an epitope on ELAC2 was assayed in.

• skin melanoma T cell

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

1.05

gnomAD pLI

0

gnomAD missense Z

-0.41

DepMap mean gene effect

-0.92

DepMap dependency class

common

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• mitochondrial tRNA 3'-end processing
• mitochondrial tRNA processing
• tRNA 3'-end processing
• tRNA decay

Molecular functions

• 3'-tRNA processing endoribonuclease activity
• metal ion binding
• RNA binding
• RNA endonuclease activity
• tRNA-specific ribonuclease activity

Cellular components

• cytosol
• mitochondrial matrix
• mitochondrial nucleoid
• mitochondrion
• nucleoplasm
• nucleus

Protein domainsUniProt · Pfam · InterPro

• Ribonuclease Z/Hydroxyacylglutathione hydrolase-like
• Anti-Pycsar protein Apyc1
• tRNase Z endonuclease
• Zinc phosphodiesterase ELAC protein 2-like
• tRNase Z endonuclease

KeywordsUniProt

• Endonuclease
• Hydrolase
• Metal-binding
• Mitochondrion
• Mitochondrion nucleoid
• Nuclease
• Nucleus
• Phosphoprotein
• Primary mitochondrial disease
• Proto-oncogene
• Transit peptide
• tRNA processing
• Zinc

InteractionsUniProt · HPA

Protein binding partners of ELAC2 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• PTCD1
• DNAJC7